cerebellar-facial-dental syndrome
ORPHA: 444072
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with cerebellar-facial-dental syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyMacrodontia of permanent maxillary central incisorTaurodontiaDental malocclusionGlobal developmental delayCerebellar hypoplasiaAbnormal facial shapeFine hairScoliosisSparse hairSparse eyebrowMild intellectual disabilityFailure to thriveHypoplasia of the corpus callosumVentriculomegalyEnlarged cisterna magnaPoor speechDelayed skeletal maturationLaryngeal stridorAlveolar ridge overgrowthInguinal herniaCryptorchidismUreteropelvic junction obstructionHydronephrosisLong philtrumMicrognathiaLow-set earsWide nasal bridgeAnteverted naresShort neckStrabismusCataractSingle transverse palmar creaseTapered fingerLaryngomalaciaVentricular septal defectMitral valve prolapseHypoplasia of the brainstemAbnormal midbrain morphologyLimb hypertoniaSlender long boneSevere short statureAscending tubular aorta aneurysmAbnormal T-wavePeriventricular leukomalaciaInferior cerebellar vermis hypoplasiaS-shaped palpebral fissuresFoot joint contractureSevere intellectual disabilityInfancy onset short-trunk short statureMidface retrusionHypoplasia of the pons
Classification & Codes
Orphanet Code
ORPHA:444072cerebellar-facial-dental syndrome
| Orphanet | ORPHA:444072 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO